BACKGROUND: This study was performed to evaluate the histological changes of the maxillary sinus mucosa of patients with chronic rhinosinusitis (CRS) after functional endoscopic sinus surgery (FESS). METHODS: In a cohort study, biopsy specimens were collected from the maxillary sinus of patients submitted for FESS. One year after surgery, patients were clinically reassessed. Patients showing recurrence of disease (group 1) required a revision surgery, through which a second biopsy specimen was collected...

BACKGROUND AND OBJECTIVE: To evaluate the efficacy of functional septoplasty in a group of patients with septal dysmorphy and obstructive sleep apnea syndrome (OSAS). PATIENTS AND METHOD: 34 patients with nasal respiratory insufficiency and chronic snore were included from 1997 to 2003. All of them were diagnosed of OSAS by nocturnal polysomnography (PSG) and of septal dysmorphy by ORL physical examination. Patients were clinically followed-up at 1, 3 and 6 months after surgery...

The DiGeorge syndrome/velocardiofacial syndrome is the most frequent chromosomal microdeletion syndrome. Partial deletion of chromosome 22q11 may lead to symptoms including facial dysmorphy, hypoparathyroidism, thymic aplasia, congenital heart disease, developmental retardation, and disturbance of speech development. According to the literature, 9% of patients have cleft palate, an additional 5% have a submucosal cleft, and a total of 32% show velopharyngeal insufficiency. We studied 64 children with a cleft, or with delayed speech development and a submucosal or occult cleft, for the presence of the 22q11deletion using fluorescent in situ hybridisation...

Congenital adrenal hypoplasia (CAH) normally occurs in the neonatal period, with patients presenting with more or less severe salt-wasting syndrome. X-linked CAH has been associated with mutations in the DAX-1 gene, and boys have also been shown to have hypogonadotrophic hypogonadism. Recently, in three unrelated boys, CAH was associated with intrauterine growth retardation (IUGR), metaphyseal dysplasia and genital abnormalities, defining a new association called IMAGe. We now report four additional patients with this association, including the first living female...

UNLABELLED: Among the many acquired or constitutional causes of chondrodysplasia punctata, the X-linked recessive form is well individualized. CASE REPORT: A male newborn presented a dysmorphic syndrome with a marked nasal hypoplasia, a macroglossia and a short neck. The diagnosis of chondrodysplasia punctata was made by radiography whereas the chromosomal chart revealed the existence of an additional Y fragment in Xpter, effectuating a partial disomy Yp and a monosomy Xpter...

The authors present 87 patients with trigonocephaly who were operated on. They take an interest in the consequence of the early synostosis of the metopic suture. The metopic suture combine with the sagittal sutural system, but his spot of manifestation is unambiguous. Its manage the dimension of the frontal bone which himself has repercussions on the set of the orbits. Thereby the fronto-orbito-facial dysmorphy has two component parts. One direct with little frontal bone and a thick sutural spot which extend more or less to the bregma and a second indirect with early deformation of the orbits and late deformation of the parietal bones...

The authors describe three cases of familial acrocephalosyndactyly (ACS) in two boys (9 and 3 years of age) and in their 7.5-year old sister. In addition, irregularities in skull and limbs were found in the 46-year old father as well as in two other children, i.e., two girls, 14 and 4 years of age. The mother (46 years-old) and the remaining four 4 boys (12-, 9-, and 7-years-old), as well as the youngest child, a son, 1-year-old) did not show any deviations. The diagnosis of the Saethre-Chotzen syndrome in six members of one family was based on the finding of a typical skull deformation (oxybrachycephalia), low hairline, flattened nasofrontal angle, lateral deviation of the nasal septum, facial dysmorphy, prolapse of upper eyelids, antimongoloid placement of palpebral fissures, protruding eyes, hypertelorism, dysmorphy of auricles, imperfect hearing, highly arched palate, improper dentition, and characteristic skin syndactyly of hands and feet...

We collected newborn pigs with facial dysmorphy. In ten animals complete unilateral or bilateral hare lip was found to be associated with agenesis, aplasia, or hypoplasia of the olfactory bulbs. In order to get insight into a possible pathomorphogenetic relation between these types of clefts, malformations of the olfactory bulbs, and the role of the derivatives of the olfactory placode, the right olfactory placode was extirpated in 180 chick embryos at stage 17-18 according to Hamburger and Hamilton. Forty of the 78 surviving embryos showed shortening and deviation of the upper bill to the right, absence of the right nasal ostium, and agenesis of the right olfactory bulb...

The syndrome of trisomy 10q24leads to 10qter is described from three patients studied by the authors and five cases reported from the literature. The characteristic dysmorphy of the syndrome, although different from that of trisomy 21, nevertheless is reminiscent because of euroasiatic facies. The facies is broad, round, because of euroasiatic facies. The facies is broad, round, and flat, with a prominent malar region and a high and convex forehead. Palpebral fissures are narrow with bilateral epicanthal folds, and the nasal bridge is hypoplasitc...